Human Williams Beuren syndrome chromosome region 22 ELISA Kit | WBSCR22 elisa kit
Human Uncharacterized methyltransferase WBSCR22, WBSCR22 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]
Uniprot Description
WBSCR22: Methyltransferase that may act on DNA. WBSCR22 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR22 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. Belongs to the methyltransferase superfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Other Amino Acids Metabolism - selenoamino acid; Amino Acid Metabolism - tyrosine; Amino Acid Metabolism - histidine; Methyltransferase; Lipid Metabolism - androgen and estrogen; EC 2.1.1.-
Chromosomal Location of Human Ortholog: 7q11.23
Cellular Component: cytoplasm; nucleolus
Molecular Function: methyltransferase activity
Biological Process: methylation; regulation of transcription, DNA-dependent; transcription, DNA-dependent; chromatin modification; rRNA processing
Research Articles on WBSCR22
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Product Notes
The Human WBSCR22 wbscr22 (Catalog #AAA9341971) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9341971 ELISA Kit recognizes Human WBSCR22. It is sometimes possible for the material contained within the vial of "Williams Beuren syndrome chromosome region 22, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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